Scientists discover genetic condition that causes paralysis following mild infections
Doctors and genetic researchers at The University of Manchester have discovered that changes in a gene leads to severe nerve damage in children following a mild bout of infection.
The research study was funded by the National Institute for Health and Care Research (NIHR), LifeArc and the Wellcome Trust and published in The Lancet Neurology today (16/07/25).
Twenty-five years ago when Timothy Bingham was two years old, he had a mild flu like illness which left him unable to walk.
Three years later following another infection, he was paralysed and has been in a wheelchair ever since.
Then in 2011, doctors saw an 8-month-old girl at a UK hospital who had been completely fit and well until a mild chest infection left her unable to breathe without the support of a ventilator.
They considered that there may be a genetic cause as her two brothers had experienced similar severe problems following mild infections.
Genetic researchers at the University of Manchester have now discovered that changes in a gene called RCC1 led to this severe nerve damage in both Timothy and the family in Manchester.
A further 20 children from 10 families from the UK, T眉rkiye, Czechia, Germany, Iran, India, Saudi Arabia, Cyprus, and Slovakia have been found to have changes in the same gene leading to this severe nerve condition all triggered by mild infections.
In over half of the children, doctors suspected the diagnosis of a different severe nerve condition that can develop after infection called .
The researchers performed laboratory studies on skin cells taken from patients and in specially genetically engineered fruit flies to show that the damage to nerves can be caused by certain chemicals.
Skin cells from patients when looked at under special microscopes have changes very similar to those seen in the cells of patients with motor neuron disease where muscles, including those controlling breathing and swallowing, become weak.
This breakthrough brings us great hope as it will do to all those people who have waited years for answers. This is something that helps us look to the future
Bill Newman, Professor of Translational Genomic Medicine at the University of Manchester and Rare Condition co-theme lead at the NIHR Manchester Biomedical Research Centre led the research.
He said: 青瓜视频淯ntil this study, little was known about why some people experience severe nerve damage after they have had a mild infection like flu or a stomach upset.
青瓜视频淭his work provides families with an explanation and is the first step in us developing an effective treatment. As children are well before they develop nerve damage following an infection, this gives us an opportunity to treat at risk children before problems occur.
青瓜视频淭he similarity with Guillain-Barr茅 syndrome and with conditions like motor neuron disease may help us understand these more common conditions and why some people are at greater risk and what treatments may be effective.青瓜视频�
Kate Bingham, mum of Tim who is now 28, said: 青瓜视频淎bout 25 years ago Tim got a flu like infection and a temperature. What seemed like a minor illness had devastating consequences.
青瓜视频淭he attack, and subsequent attacks - did terrible damage. First to his legs, then his arms, his face and his chest.
青瓜视频淎nd now he needs 24-hour care. His diaphragm barely works at all so he can青瓜视频檛 cough. It青瓜视频檚 hard for him to chew and he can青瓜视频檛 drink unassisted. He can青瓜视频檛 move in bed so needs turning throughout the night. The things we all take for granted he can青瓜视频檛 do.
青瓜视频淏ut I青瓜视频檓 proud of how strong Tim has been. He now has a girlfriend he met online who is wonderful. He proves there is life beyond disability.青瓜视频�
She added: 青瓜视频淎s Tim青瓜视频檚 mum the discovery of a gene which is linked to what happened to Tim means everything to me. For so long we have lived with uncertainty of not knowing the full picture.
青瓜视频淭his breakthrough brings us great hope as it will do to all those people who have waited years for answers. This is something that helps us look to the future.青瓜视频�
Sam Barrell, CEO of LifeArc, said, 青瓜视频溓喙鲜悠禍For many people living with rare conditions, the wait for a diagnosis can be agonisingly long - around a third wait more than five years. In Timothy青瓜视频檚 case, that uncertainty stretched for over twenty years. This discovery provides a potential target for treatment and the first step towards delivering a brighter future for people that could be living with this same devastating condition.青瓜视频�
Image: Kate and Tim and Tim with his dog, Red.
The paper Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series is published in The Lancet Neurology here DOI